Results 71 to 80 of about 9,471 (216)

The Phenotypic and Genotypic Features of ADAMTSL4‐Related Ocular Disease

Clinical Genetics, EarlyView.
ADAMTSL4‐related ocular disease tends to present at a younger age and be associated with higher myopia than other forms of ectopia lentis (such as FBN1). A previously reported 20‐bp deletion (c.767_786del) was highly prevalent in this cohort (23/32), and all ectopia lentis et pupillae cases carried this variant. ABSTRACT Pathogenic variants in ADAMTSL4
Katie M. Williams, Wolfgang Berger, Samuel Koller, Fatma Kivrak Pfiffner, Alessandro Maspoli, Jiradet Gloggnitzer, Britta V. T. Brühwiler, Christina Stathopoulos, Francis Munier, Louise Allen, Christos Iosifidis, Graeme C. Black, Panagiotis I. Sergouniotis, Ian Christopher Lloyd, Christina Gerth‐Kahlert   +14 more
wiley   +1 more source

Cellular Signalling Networks in High Altitude Pulmonary Hypertension: From Canonical Pathways to Emerging Targets

Cell Proliferation, EarlyView.
This review elucidates the intricate cellular signalling networks involved in high‐altitude pulmonary hypertension (HAPH), integrating canonical pathways like HIF, MAPK and BMP with emerging targets such as Wnt/β‐catenin, Notch, Hippo‐YAP and IL‐6. It highlights potential therapeutic strategies targeting these pathways to mitigate vascular remodelling ...
Sheng Ding, Ju Chen, Zhaoyang Li, Yang Yu, Weijie Wang, Yan Liao, Jin Yang, Dianxiang Lu, Yujiang Fan   +8 more
wiley   +1 more source

Genetic and molecular mechanism for distinct clinical phenotypes conveyed by allelic truncating mutations implicated in FBN1

Molecular Genetics & Genomic Medicine, 2020
Background The molecular and genetic mechanisms by which different single nucleotide variant alleles in specific genes, or at the same genetic locus, cause distinct disease phenotypes often remain unclear. Allelic truncating mutations of FBN1 could cause
Mao Lin, Zhenlei Liu, Gang Liu, Sen Zhao, Chao Li, Weisheng Chen, Zeynep Coban Akdemir, Jiachen Lin, Xiaofei Song, Shengru Wang, Qiming Xu, Yanxue Zhao, Lianlei Wang, Yuanqiang Zhang, Zihui Yan, Sen Liu, Jiaqi Liu, Yixin Chen, Yuzhi Zuo, Xu Yang, Tianshu Sun, Xin‐Zhuang Yang, Yuchen Niu, Xiaoxin Li, Wesley You, Bintao Qiu, Chen Ding, Pengfei Liu, Shuyang Zhang, Claudia M. B. Carvalho, Jennifer E. Posey, Guixing Qiu, Deciphering Disorders Involving Scoliosis and COmorbidities (DISCO) study, James R. Lupski, Zhihong Wu, Jianguo Zhang, Nan Wu   +36 more
doaj   +1 more source

The tympanic covering layer contributes to basilar membrane elasticity potentially influencing human frequency resolution and speech perception

Journal of Anatomy, EarlyView.
In this study we show for the first time that the human basilar membrane contains elastin produced by the so‐called tympanic covering layer. It is believed to play an important functional role in human cochlear tuning, particularly low frequencies linked to our remarkable speech and music perception.
Wei Liu, Claudia Steinacher, Alexander Glueckert, Rudolf Glueckert, Hao Li, Karin Staxäng, Anneliese Schrott‐Fischer, Hanif M. Ladak, Sumit Agrawal, Helge Rask‐Andersen   +9 more
wiley   +1 more source

Comprehensive Prediction of FBN1 Targeting miRNAs: A Systems Biology Approach for Marfan Syndrome

Gazi Medical Journal
Objective: Marfan syndrome (MFS) is a genetic connective tissue disorder primarily caused by mutations in the FBN1 gene. Emerging evidence highlights the regulatory role of microRNAs (miRNAs) in modulating gene expression in MFS, but a systematic ...
Mehmet Emin Orhan, Yılmaz Mehmet Demirci, Müşerref Duygu Saçar Demirci   +2 more
doaj   +1 more source

Genetic testing for Marfan syndrome

The EuroBiotech Journal, 2018
Marfan syndrome (MFS) is an inherited connective tissue disorder caused by heterozygous mutations in the FBN 1 gene. Clinical manifestations of MFS include aortic dilatation and dissection, as well as cardiac valvular, ocular, skeletal and neurological ...
Rakhmanov Yeltay, Maltese Paolo Enrico, Marinelli Carla, Castori Marco, Beccari Tommaso, Dundar Munis, Bertelli Matteo   +6 more
doaj   +1 more source

A Chemical Probe for Increasing Leaf Tocopherol Levels by Coordinated Modulation of Biosynthesis, Competition and Storage

Plant Biotechnology Journal, EarlyView.
ABSTRACT Plant biofortification with phytonutrients typically relies on metabolic engineering strategies known as ‘push’ (enhancing biosynthetic flux), ‘block’ (inhibiting competing pathways) and ‘pull’ (promoting metabolite storage). Here, we describe a novel synthetic compound, X57, that simultaneously targets biosynthesis, competition and storage to
Pablo Perez‐Colao, Gaetan Glauser, Jacobo Cruces, Jorge Lozano‐Juste, Manuel Rodriguez‐Concepcion   +4 more
wiley   +1 more source

Tobamoviruses CP Proteins Hijack Light‐Induced Protein (NbLIP1) to Promote Viral Replication by Facilitating VRO Formation

Plant Biotechnology Journal, EarlyView.
ABSTRACT Tobamoviruses establish viral replication organelles (VROs) on the host endoplasmic reticulum (ER) for their replication, a process demanding substantial different types of lipids. However, how viruses efficiently transfer these lipids from other compartments like chloroplasts remains incompletely understood.
Haoyu Chen, Mingjie Wu, Xiao Guo, Hongmei Xu, Chenwei Feng, Duxuan Liu, Jing Hua, Yanhong Hua, Zhen He, Peter Moffett, Kun Zhang   +10 more
wiley   +1 more source

Paucity of skeletal manifestations in hispanic families with FBN1 mutations [PDF]

European Journal of Medical Genetics, 2010
Marfan syndrome (MFS) is an autosomal dominant condition with pleiotropic manifestations involving the skeletal, ocular, and cardiovascular systems. The diagnosis is based primarily on clinical involvement of these and other systems, referred to as the Ghent criteria. We have identified three Hispanic families from Mexico with cardiovascular and ocular
Carlos, Villamizar, Ellen S, Regalado, Van Tran, Fadulu, Sumera N, Hasham, Prateek, Gupta, Marcia C, Willing, Shao-Qing, Kuang, Dongchuan, Guo, Ann, Muilenburg, Richard W, Yee, Yuxin, Fan, Jeffrey, Towbin, Joseph S, Coselli, Scott A, LeMaire, Dianna M, Milewicz   +14 more
openaire   +2 more sources

Reduced Dietary Protein Induces Changes in the Dental Proteome

Journal of Experimental Zoology Part B: Molecular and Developmental Evolution, Volume 346, Issue 2, Page 107-127, March 2026.
Low dietary protein (10%) from normal (20%) does change protein expression in tooth proteome and alter developmental pathways. Among the significant protein expressions changes are actin‐based myosins, tooth, and bone development proteins. Perplexingly tooth size is not altered, suggesting more nuanced phenotypic response to low dietary protein in ...
Robert W. Burroughs, Christopher J. Percival, Natasha S. Vitek   +2 more
wiley   +1 more source